Variant report

Variant	rs2696344
Chromosome Location	chr2:182533211-182533212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182532266..182535850-chr2:182536039..182541254,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10178686	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10207791	0.86[MKK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs10208667	0.89[AFR][1000 genomes]
rs12052558	0.83[ASN][1000 genomes]
rs12053195	0.91[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.81[ASN][1000 genomes]
rs13416231	0.83[AFR][1000 genomes]
rs16867465	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs16867467	0.91[CEU][hapmap];0.82[ASN][1000 genomes]
rs2583017	0.87[AFR][1000 genomes]
rs2696347	0.83[AFR][1000 genomes]
rs2696348	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2696351	0.85[AFR][1000 genomes]
rs2696352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28416292	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28874657	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3755022	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3916026	0.93[JPT][hapmap]
rs60472345	0.81[AFR][1000 genomes]
rs6713027	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6756950	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs72889320	0.86[ASN][1000 genomes]
rs72889322	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7420169	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182531600-182537000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:182532400-182533400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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